7-7969632-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138426.4(GLCCI1):c.282C>A(p.Ser94Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000067 in 1,015,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138426.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000341 AC: 50AN: 146448Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.0000207 AC: 18AN: 868500Hom.: 0 Cov.: 33 AF XY: 0.0000195 AC XY: 8AN XY: 410092
GnomAD4 genome AF: 0.000341 AC: 50AN: 146556Hom.: 0 Cov.: 31 AF XY: 0.000350 AC XY: 25AN XY: 71338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.282C>A (p.S94R) alteration is located in exon 1 (coding exon 1) of the GLCCI1 gene. This alteration results from a C to A substitution at nucleotide position 282, causing the serine (S) at amino acid position 94 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at